21745 articles – 15574 references  [version française]

hal-00281481, version 1

Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors.

Rachel Linger 1, Darshna Dudakia 1, Robert Huddart 2, Kathy Tucker 3, Michael Friedlander 3, Kelly-Anne Phillips 4, David Hogg 5, Michael A S Jewett 5, Radka Lohynska 6, Gedske Daugaard 7, Stéphane Richard 891011121314151617181920, Agnes Chompret 2122232425, Dominique Stoppa-Lyonnet 262728, Catherine Bonaïti-Pellié 222930, Axel Heidenreich 31, Peter Albers 32, Edith Olah 3334, Lajos Geczi 33, Istvan Bodrogi 33, Peter A Daly 35, Parry Guilford 36, Sophie D Fosså 37, Ketil Heimdal 37, Sergei A Tjulandin 38, Ludmila Liubchenko 38, Hans Stoll 3940, Walter Weber 394142, Lawrence Einhorn 43, Mary McMaster 44, Larissa Korde, Mark H Greene 44, Katherine L Nathanson 45, Victoria Cortessis 46, Douglas F Easton 4748, D Timothy Bishop 49, Michael R Stratton 1, Elizabeth A Rapley 1

Genes Chromosomes and Cancer / GENES CHROMOSOMES & CANCER 47, 3 (2008) 247-52

Abstract: A base substitution in the mouse Dnd1 gene resulting in a truncated Dnd protein has been shown to be responsible for germ cell loss and the development of testicular germ cell tumors (TGCT) in the 129 strain of mice. We investigated the human orthologue of this gene in 263 patients (165 with a family history of TGCT and 98 without) and found a rare heterozygous variant, p. Glu86Ala, in a single case. This variant was not present in control chromosomes (0/4,132). Analysis of the variant in an additional 842 index TGCT cases (269 with a family history of TGCT and 573 without) did not reveal any additional instances. The variant, p. Glu86Ala, is within a known functional domain of DND1 and is highly conserved through evolution. Although the variant may be a rare polymorphism, a change at such a highly conserved residue is characteristic of a disease-causing variant. Whether it is disease-causing or not, mutations in DND1 make, at most, a very small contribution to TGCT susceptibility in adults and adolescents.

  • 1:  Section of Cancer Genetics
  • Institute of cancer research
  • 2:  Academic Radiotherapy Unit
  • Institute of cancer research
  • 3:  Dept of Medical Oncology, Division of Medicine
  • Prince of Wales Hospital Randwick – University of New South Wales
  • 4:  Dept of Haematology and Medical Oncology
  • Peter MacCallum Cancer Centre
  • 5:  Princess Margaret Hospital
  • Princess Margaret Hospital – University of Toronto
  • 6:  Dept of Radiotherapy and Oncology
  • University hospital of Prague
  • 7:  Dept of Oncology
  • Rigshospitalet
  • 8:  Laboratoire Charles Fabry de l'Institut d'Optique (LCFIO)
  • Institut d'Optique Graduate School (IOGS) – CNRS : UMR8501 – Université Paris XI - Paris Sud
  • 9:  Thales Research and Technologies [Orsay] (TRT)
  • THALES
  • 10:  Institut d'Electronique Fondamentale
  • Aucune
  • 11:  Centre lillois d'études et de recherches sociologiques et économiques (CLERSE)
  • CNRS : UMR8019 – Université Lille I - Sciences et technologies
  • 12:  Physiopathologie cardiovasculaire
  • INSERM : U637 – IFR3 – Université Montpellier I
  • 13:  Laboratoire d'analyse et d'architecture des systèmes (LAAS)
  • CNRS : UPR8001 – Université Paul Sabatier [UPS] - Toulouse III – Institut National Polytechnique de Toulouse - INPT – Institut National des Sciences Appliquées (INSA) - Toulouse
  • 14:  Institut Camille Jordan (ICJ)
  • CNRS : UMR5208 – Université Claude Bernard - Lyon I – Ecole Centrale de Lyon – Institut National des Sciences Appliquées (INSA) - Lyon
  • 15:  Génétique oncologique (GO)
  • CNRS : UMR8125 – Institut Gustave Roussy – Université Paris XI - Paris Sud
  • 16:  Service d'urologie
  • Assistance publique - Hôpitaux de Paris (AP-HP) – Hôpital Bicêtre – Université Paris XI - Paris Sud
  • 17:  Laboratoire d'aérologie (LA)
  • CNRS : UMR5560 – Observatoire Midi-Pyrénées – INSU – Université Paul Sabatier [UPS] - Toulouse III
  • 18:  Centre de Recherches Biologiques
  • CERB
  • 19:  Génomes et cancer (GC)
  • CNRS : FRE2939 – Institut Gustave Roussy – Université Paris XI - Paris Sud
  • 20:  IFP Energies Nouvelles (IFPEN)
  • IFP Energies Nouvelles
  • 21:  Département de Pédiatrie
  • Institut Gustave Roussy
  • 22:  Epidémiologie des cancers
  • INSERM : U521
  • 23:  Consultation d'Oncogénétique
  • Institut Gustave Roussy – Département de médecine
  • 24:  Département de médecine
  • Institut Gustave Roussy
  • 25:  Département d'oncologie
  • Institut Gustave Roussy
  • 26:  Service de Génétique Oncologique
  • Institut Curie – Université Paris V - Paris Descartes
  • 27:  Département de génétique
  • Institut Curie
  • 28:  Unité de génétique et biologie des cancers
  • INSERM : U830 – Institut Curie – Université Pierre et Marie Curie [UPMC] - Paris VI
  • 29:  Génétique épidémiologique et structures des populations humaines
  • INSERM : U535 – IFR69 – Université Paris XI - Paris Sud
  • 30:  Epidémiologie génétique
  • INSERM : U155
  • 31:  Dept of Urological Oncology
  • Phillips university
  • 32:  Department of Urology
  • Klinikum Kassel GmbH
  • 33:  Department of Molecular Genetics and Department of Chemotherapy
  • National Institute of Oncology
  • 34:  National Institute of Oncology
  • National Institute of Oncology
  • 35:  Department of Medical Oncology
  • St James's hospital
  • 36:  Cancer Genetics Laboratory
  • University of Otago
  • 37:  Departments of Clinical Cancer Research and genetics
  • Rikshospitalet-Radiumhospitalet Trust
  • 38:  Laboratory of Clinical Genetics
  • Institute of Clinical Oncology
  • 39:  Medical Oncology
  • University hospital of Basel
  • 40:  Max Planck Institute für Metallforschung
  • Max-Planck-Institut
  • 41:  Google Inc.®
  • Google Inc.®
  • 42:  Institut de Physique et Chimie des Matériaux de Strasbourg (IPCMS)
  • CNRS : UMR7504 – Université Louis Pasteur - Strasbourg I
  • 43:  Department of Medical Oncology
  • Barts and The London Queen Mary's School of Medicine
  • 44:  Clinical Genetics Branch, Division of Cancer Epidemiology & Genetics
  • NIH – National Cancer Institute
  • 45:  Depts of Medicine and Biostatistics and Epidemology
  • Abramson Family Cancer Research Institute – University of Pennsylvania School of Medicine
  • 46:  Department of Preventive Medicine
  • Keck School of Medicine
  • 47:  Cancer Research U.K. Genetic Epidemiology Unit
  • Strangeways Research Laboratory
  • 48:  Genetic Epidemiology Unit, Department of Public Health and Primary Care
  • University of Cambridge
  • 49:  Genetic Epidemiology Division, Cancer Research UK Clinical Centre
  • Saint James's University Hospital
  • Domain : Life Sciences/Other
 
  • hal-00281481, version 1
  • oai:hal.archives-ouvertes.fr:hal-00281481
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  • Submitted on: Thursday, 22 May 2008 15:47:44
  • Updated on: Friday, 15 October 2010 14:15:52